Three novel mutations (IVS8+3a → g, N219Y, and E414X) were identified in 6 unrelated patients with mut0 methylmalonic aciduria. The presence of a wild-type along with rearranged fragments in homozygotes for the IVS8+3a → g mutation may contribute to their later age of onset (3-11 months of age). Nonetheless, delayed onset was not associated with better neurological outcome and prolonged survival. The large number of undiagnosed dead sibs in most families suggests that the disease is largely underdiagnosed in this region.
- Methylmalonyl-CoA mutase
- Mut methylmalonic acidemia
ASJC Scopus subject areas
- Endocrinology, Diabetes and Metabolism
- Molecular Biology